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Genetics of FTLD: overview and what else we can expect from genetic studies

Journal of neurochemistry, 2016-08, Vol.138 (S1), p.32-53

2016

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Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency

Cell reports (Cambridge), 2017-09, Vol.20 (11), p.2565-2574

2017

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Tissue‐specific transcriptome analyses in Drosophila provide novel insights into the mode of action of the insecticide spinosad and the function of its target, nAChRα6

Pest management science, 2023-10, Vol.79 (10), p.3913-3925

2023

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Drosophila Voltage-Gated Sodium Channels Are Only Expressed in Active Neurons and Are Localized to Distal Axonal Initial Segment-like Domains

The Journal of neuroscience, 2020-10, Vol.40 (42), p.7999-8024

2020

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Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

American journal of human genetics, 2019-11, Vol.105 (5), p.907-920

2019

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The Music Treatises of Thomas Ravenscroft: 'Treatise of Practicall Musicke' and A Briefe Discourse

Duffin, RossW

1, 2014

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The Voltage-Gated Sodium Channel in Drosophila , Para, Localizes to Dendrites As Well As Axons in Mechanosensitive Chordotonal Neurons

eNeuro, 2023-06, Vol.10 (6), p.ENEURO.0105-23.2023

2023

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Mutations in protein N -arginine methyltransferases are not the cause of FTLD-FUS

Neurobiology of aging, 2013-09, Vol.34 (9), p.2235.e11-2235.e13

2013

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The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida

American journal of neurodegenerative disease, 2016, Vol.5 (1), p.94-101

2016

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TYROBP genetic variants in early-onset Alzheimer's disease

Neurobiology of aging, 2016-12, Vol.48, p.222.e9-222.e15

2016

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TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

American journal of human genetics, 2021-09, Vol.108 (9), p.1669-1691

2021

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Which outcomes should we measure in vitiligo? Results of a systematic review and a survey among patients and clinicians on outcomes in vitiligo trials

British journal of dermatology (1951), 2012-10, Vol.167 (4), p.804-814

2012

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The Eczema Priority Setting Partnership: a collaboration between patients, carers, clinicians and researchers to identify and prioritize important research questions for the treatment of eczema

British journal of dermatology (1951), 2013-03, Vol.168 (3), p.577-582

2013

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Identifying the best predictive diagnostic criteria for psoriasis in children (< 18 years): a UK multicentre case–control diagnostic accuracy study (DIPSOC study)

British journal of dermatology (1951), 2022-02, Vol.186 (2), p.341-351

2022

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Randomized controlled trial of topical corticosteroid and home‐based narrowband ultraviolet B for active and limited vitiligo: results of the HI‐Light Vitiligo Trial

British journal of dermatology (1951), 2021-05, Vol.184 (5), p.828-839

2021

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An economic evaluation of the randomized controlled trial of topical corticosteroid and home‐based narrowband ultraviolet B for active and limited vitiligo (the HI‐Light Vitiligo Trial)

British journal of dermatology (1951), 2021-05, Vol.184 (5), p.840-848

2021

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Quality assurance and characterization of narrowband ultraviolet B devices for use at home: lessons from the HI‐Light Vitiligo Trial

British journal of dermatology (1951), 2021-05, Vol.184 (5), p.954-955

2021

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Deformable Temporal Convolutional Networks for Monaural Noisy Reverberant Speech Separation

ICASSP 2023 - 2023 IEEE International Conference on Acoustics, Speech and Signal Processing (ICASSP), 2023, p.1-5

2023

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Combining Conformer and Dual-Path-Transformer Networks for Single Channel Noisy Reverberant Speech Separation

ICASSP 2024 - 2024 IEEE International Conference on Acoustics, Speech and Signal Processing (ICASSP), 2024, p.11491-11495

2024

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Future research into the treatment of vitiligo: where should our priorities lie? Results of the vitiligo priority setting partnership

British journal of dermatology (1951), 2011-03, Vol.164 (3), p.530-536

2011

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Home-based narrowband UVB, topical corticosteroid or combination for children and adults with vitiligo: HI-Light Vitiligo three-arm RCT

Health technology assessment (Winchester, England), 2020-11, Vol.24 (64), p.1-128

2020

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Doxycycline versus prednisolone as an initial treatment strategy for bullous pemphigoid: a pragmatic, non-inferiority, randomised controlled trial

The Lancet (British edition), 2017-04, Vol.389 (10079), p.1630-1638

2017

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Perceive and Predict: Self-Supervised Speech Representation Based Loss Functions for Speech Enhancement

ICASSP 2023 - 2023 IEEE International Conference on Acoustics, Speech and Signal Processing (ICASSP), 2023, p.1-5

2023

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Genetics of FTLD: overview and what else we can expect from genetic studies

Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency

Tissue‐specific transcriptome analyses in Drosophila provide novel insights into the mode of action of the insecticide spinosad and the function of its target, nAChRα6

Drosophila Voltage-Gated Sodium Channels Are Only Expressed in Active Neurons and Are Localized to Distal Axonal Initial Segment-like Domains

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

The Music Treatises of Thomas Ravenscroft: 'Treatise of Practicall Musicke' and A Briefe Discourse

The Voltage-Gated Sodium Channel in Drosophila , Para, Localizes to Dendrites As Well As Axons in Mechanosensitive Chordotonal Neurons

Mutations in protein N -arginine methyltransferases are not the cause of FTLD-FUS

The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

TYROBP genetic variants in early-onset Alzheimer's disease

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

Which outcomes should we measure in vitiligo? Results of a systematic review and a survey among patients and clinicians on outcomes in vitiligo trials

The Eczema Priority Setting Partnership: a collaboration between patients, carers, clinicians and researchers to identify and prioritize important research questions for the treatment of eczema

Identifying the best predictive diagnostic criteria for psoriasis in children (< 18 years): a UK multicentre case–control diagnostic accuracy study (DIPSOC study)

Randomized controlled trial of topical corticosteroid and home‐based narrowband ultraviolet B for active and limited vitiligo: results of the HI‐Light Vitiligo Trial

Alzheimer's therapeutics targeting amyloid beta 1-42 oligomers I: Abeta 42 oligomer binding to specific neuronal receptors is displaced by drug candidates that improve cognitive deficits

An economic evaluation of the randomized controlled trial of topical corticosteroid and home‐based narrowband ultraviolet B for active and limited vitiligo (the HI‐Light Vitiligo Trial)

Quality assurance and characterization of narrowband ultraviolet B devices for use at home: lessons from the HI‐Light Vitiligo Trial

Deformable Temporal Convolutional Networks for Monaural Noisy Reverberant Speech Separation

Combining Conformer and Dual-Path-Transformer Networks for Single Channel Noisy Reverberant Speech Separation

Future research into the treatment of vitiligo: where should our priorities lie? Results of the vitiligo priority setting partnership

Home-based narrowband UVB, topical corticosteroid or combination for children and adults with vitiligo: HI-Light Vitiligo three-arm RCT

Doxycycline versus prednisolone as an initial treatment strategy for bullous pemphigoid: a pragmatic, non-inferiority, randomised controlled trial

Perceive and Predict: Self-Supervised Speech Representation Based Loss Functions for Speech Enhancement

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